Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract

Preferred Label : Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract;

Symbol : PHARC;

CISMeF acronym : PHARC;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the abhydrolase domain-containing protein 12, lysophospholipase gene (ABHD12, 613599.0001);

Laboratory abnormalities : Normal serum phytanic and pristanic acid;

Prefixed ID : #612674;

Details

Origin ID

612674;

UMLS CUI

C2675204;

Automatic exact mappings (from CISMeF team)
- ABHD12 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- PHARC syndrome [DO Concept]
- Peripheral neuropathy, Fiskerstrand type [ICD-11 More detail]
- Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome (disorder) [SNOMED CT concept]
- Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome [ORDO Disease]
- polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract [MeSH concept]
- polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract [MeSH Supplementary Concept]
DO Cross reference
- PHARC syndrome [DO Concept]
Genes related to phenotype
- Abhydrolase domain-containing protein 12, lysophospholipase [OMIM gene]
HPO term(s)
- Achilles tendon contracture [HPO term]
- Adolescent onset [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Babinski sign [HPO term]
- Cerebellar atrophy [HPO term]
- Decreased nerve conduction velocity [HPO term]
- Distal amyotrophy [HPO term]
- Distal sensory impairment [HPO term]
- Dysarthria [HPO term]
- Dysmetria [HPO term]
- Hyperreflexia [HPO term]
- Hyporeflexia [HPO term]
- Intention tremor [HPO term]
- Nystagmus [HPO term]
- Onset [HPO term]
- Optic atrophy [HPO term]
- Pes cavus [HPO term]
- Polyneuropathy [HPO term]
- Rod-cone dystrophy [HPO term]
- Sensorimotor neuropathy [HPO term]
- Sensorineural hearing impairment [HPO term]
- Slowly progressive [HPO term]
- Spasticity [HPO term]
- Subcapsular cataract [HPO term]
ORDO concept(s)
- Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome [ORDO Disease]
- polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract [MeSH Supplementary Concept]
- polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract [MeSH concept]

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